ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1690G>A (p.Asp564Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002976120 SCV003288874 uncertain significance Long QT syndrome 2022-05-12 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 564 of the KCNQ1 protein (p.Asp564Asn). This variant is present in population databases (rs764389392, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with KCNQ1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV003130797 SCV003811968 uncertain significance not provided 2020-01-16 criteria provided, single submitter clinical testing

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